Model identifying the reproductive decision after genetic counseling

To assess the identifiability of reproductive planning after genetic counseling, a model was designed to study 8 relevant factors influencing reproductive decisions after genetic counseling. Altogether, 164 couples were interviewed at home 2 to 3 years after genetic counseling. The factors were arranged in a flow chart distinguishing 3 groups: reproductive outcome prior to genetic counseling, desire to have children, and interpretation of information gained from genetic counseling. The model based upon these retrospective data showed that reproductive decisions were identified correctly in 91% of the cases. The model consisted of 8 factors and documented the urgency of the desire to have children and the interpretation of the genetic risk. In addition, linear discriminant analysis of the 8 relevant factors enabled identification of the reproductive decision in 96% of the cases. This model may prove helpful to counselors and counselees by showing what other couples have decided in comparable circumstances and for which reasons.     

Analysis of problems in making the reproductive decision after genetic counselling.

A follow up study of 164 couples to evaluate reproductive decision making two to three years after genetic counselling showed that 43% had problems making the reproductive decision. These couples (1) had experienced difficulty in the decision making process, (2) had doubts about the decision they had made, or (3) had been unable to make a decision. Using logistic regression analysis we identified the following factors as independently and significantly associated with problems in the decision making process: (1) no postcounselling relief, (2) anticipation of a high risk level, (3) relatives' disapproval of decision, (4) a decision against having children, and (5) the presence of an affected child. Interestingly, of the couples that decided to have children, 45% of those who were eligible for prenatal diagnosis experienced the decision making process as difficult compared with 23% of those for whom prenatal diagnosis was not available (p less than 0.05). Problems in the decision making process may become apparent after genetic counselling rather than in the course of it. We suggest a structured follow up three to six months after genetic counselling to identify couples that would benefit from additional supportive counselling.     

Factors in decision making following genetic counseling for pre-natal diagnosis of de novo chromosomal rearrangements

A retrospective survey of genetic counselors was conducted in order to identify practice patterns and factors that influence a patient's decision making when a de novo translocation is diagnosed pre-natally. Different variables that influence patients' decisions about pregnancy management were assessed and compared. Specifically, the type of rearrangement and/or knowledge of the breakpoints, risks provided for abnormal outcome, anxiety, fetal ultrasound findings and personal reasons for parental decisions were evaluated. Our findings suggest that patient anxiety level significantly predicts pregnancy management decisions. This information may be of benefit in identifying potential areas of education for genetic counselors as well as other health care providers.     

Factors influencing success in counseling patients to stop smoking

This study examined the anti-smoking counseling practices of a group of family practice physicians and related these to success in persuading patients to stop smoking. The study population included 283 cigarette smoking patients of 28 family practice residents. Patients were followed over a 3-month period to assess changes in smoking behavior. Two measures of success in counseling patients to stop smoking were evaluated in the study: (1) the percentage of a physician's patients who tried to quit smoking, and (2) the percentage of a physician's patients who succeeded in quitting. Findings showed wide variation among physicians in the percentage of patients who tried to quit (range: 20%–77%) and the percentage of patients who succeeded in quitting (range: 0%–25%). Two counseling practices, advising patients to set a target date for quitting and scheduling follow-up visits with patients to monitor progress, were related to the percentage of a physician's patients who quit smoking. These two counseling practices represent a way of structuring the patients quitting effort and committing the patient to follow through with a decision to stop smoking, both of which appear to be key ingredients to success in counseling patients to stop smoking.     

Couple agreement before and after genetic counseling

Before receiving genetic counseling, 699 couples completed questionnaires that were identical for both spouses. Of 385 couples where both spouses indicated a major reason for seeking counseling, 45% identified the same major reason while 55% identified different reasons. In 74% of 542 fertile couples, both spouses had identical short-term reproductive plans: 60% desired the same ideal number of children; and 44% perceived the same level of risk of having an affected child. Agreement on the seriousness of eleven potential problems occasioned by an affected child ranged from 55% to 67%. Couples were asked to return questionnaires within 7 to 10 days after counseling. At this time 76% of spouses agreed about short-term reproductive plans; 66% agreed about longer-term reproductive plans; and 60% agreed about ideal number of children. There were statistically significant increases in agreement about risk interpretation and about six of eleven potential problems in raising an affected child. The data suggest that a substantial number of couples come to genetic counseling with varying concerns and reproductive plans. There is, in general, as much disagreement on these issues between spouses after as before counseling. Implications for counseling are discussed.     

A comparison of counselee and counselor satisfaction in reproductive genetic counseling

Important insights in the process of genetic counseling can be provided by establishing levels of satisfaction. The aim of our study was to compare counselees' and counselors' satisfaction with the initial consultation in reproductive genetic counseling and to gain insight into the factors associated with their contentment. One hundred and fifty-one women and 11 counselors participated in this study. Pre-test questionnaires included counselees' socio-demographic, physical and psychological characteristics, i.e. their degree of worry, expectations, preferred participation in decision making and experienced degree of control. Post-visit questionnaires asked for counselees' and counselors' satisfaction, counselees' participation in decision making and counselees' Perceived Personal Control (PPC). Little difference was found between counselees' and counselors' overall visit-specific satisfaction (mean 79 vs 74, respectively, on a visual analogue scale from 0 to 100). The correlation between counselees' and counselors' satisfaction was medium sized (r = 0.26, p < 0.01). Counselees' satisfaction was positively associated with being pregnant and with their post-visit PPC. Counselors' satisfaction was positively associated with counselees' post-visit PPC. No other counselee and counselor related variables appeared to be associated with satisfaction, nor was the duration of the consultation. Our findings suggest that, although both groups were satisfied with the consultation, counselees and counselors do not always have equal perceptions of the consultation process and may form their evaluation in different ways. In the assessment of quality of care, evaluation of both counselees' and counselors' satisfaction deserves more attention.     

Factors influencing maternal estimates of genetic risk

The relationship between the objective and subjective estimates of genetic risk was studied in 202 women accepting and 50 women not accepting amniocentesis. All women were at risk of having a child with congenital anomalies either because of maternal age at pregnancy or family history of Down syndrome (DS) or other congenital anomalies. Only 28.6% of the women rejecting and 44.4% of the women accepting amniocentesis remembered correctly their objective odds. The correlations between the objective risk estimates and the subjective risk estimates were low overall (r = 0.089, p = 0.08); for women rejecting (r = 0.024, p = 0.44) or accepting (r = 0.082, p = 0.12) amniocentesis. The psychosocial and sociodemographic variables relating to either objective or subjective risk estimates were different for both groups of women. The study provides information on variables that should be taken into consideration in formulating a general theory to predict individual perceptions of genetic risk.     

Patient understanding of genetic information influences reproductive decision making in retinoblastoma

Background: Retinoblastoma is the most common malignant tumour of the eye in childhood, with nearly all bilateral tumours and around 17% to 18% of unilateral tumours due to an oncogenic mutation in the RB1 gene in the germline. Genetic testing enables accurate risk assessment and optimal clinical management for the affected individual, siblings, and future offspring. Material and Methods: We carried out the first UK‐wide audit of understanding of genetic testing in individuals with retinoblastoma. A total of 292 individuals aged 16 to 45 years were included. Results: Patients with bilateral disease were significantly more likely to understand the implications of retinoblastoma for siblings and children. There was a significant association between not knowing the results of genetic testing or not understanding the implications and not having children, particularly in women. Surprisingly, this was also true for individuals treated for unilateral disease with a low risk of retinoblastoma for their offspring. Conclusion: We are concerned that individuals may be making life choices based on insufficient information regarding risks of retinoblastoma and reproductive options. We suggest that improvement in transition care is needed to enable individuals to make informed reproductive decisions and to ensure optimal care for children born at risk of retinoblastoma.     

Genetic counseling and reproductive uncertainty

Of 836 fertile women seeking genetic counseling, 544 (65%) reported that their major reason for doing so was to obtain information to help in deciding if they should have a child. Thirty-four percent of these 836 women entered counseling uncertain about undertaking a pregnancy in the next 2 years. After counseling, 28% of the 836 had uncertain pregnancy intentions. These included 66% of those who were uncertain and 11% of those who were reproductively certain before counseling. Stepwise logistic regression identified the following as independently and significantly associated with reproductive uncertainty after counseling: 1) uncertainty before counseling; 2) uncertainty about ideal family size; 3) concern about the effects of an affected child on the client's social life; 4) perceived serious problems caring for a child with a birth defect now living at home; and 5) new concerns raised in counseling. Reproductive uncertainty after counseling was not related to characteristics of the risked birth defect, level of risk, treatment potential, or client learning of medical and genetic facts. These data suggest that genetic counseling will not eliminate reproductive uncertainty for many clients, because this uncertainty is related to factors mainly outside the usual scope of counseling.     

Goals of genetic counseling

The goals of genetic counseling have differed over the past three decades. Two schools of thought are prominent in reviewing past literature. One upholds the goal of preventing birth defects and genetic disorders while the other promotes a goal of improved psychological well-being in client adaptation to a genetic condition or risk. Both types of goals emphasize that clients should make their own reproductive decisions; however, the former relies on clients making decisions that will reduce the impact of genetic disorders. The differences in the types of goals may be due to the training and orientation of genetics health care providers, socio-cultural views, or priorities of health care settings. Regardless, there are ample reasons to dismiss the prevention of birth defects as a goal. This mini-review recommends use of genetic counseling sub-specialties as a framework for considering different client needs and thus different counseling goals and specific aims in the reproductive, pediatric/adult, and common disease settings. Given the extent of new genetic information, technologies, and the need to evaluate genetic counseling practice, genetics health care providers should work toward arriving at consensus on the goals of genetic counseling, and in doing so, the needs of clients should be considered.     

Evaluation of a decision aid for families considering p53 genetic counseling and testing.

PURPOSE: Li-Fraumeni syndrome (LFS) is associated with p53 germline mutations, and carriers are at increased risk for multiple primary cancers. We evaluated outcomes following the administration of a video-based decision aid (DA) prior to clinical p53 genetic counseling and testing among persons who had previously participated in cancer genetics research. METHODS: Fifty-seven individuals at risk for a known p53 mutation completed baseline and post-DA measures of psychological outcomes, plus knowledge and attitudes regarding p53 genetic testing. Counseling and testing uptake also was recorded. RESULTS: At baseline, multivariate analysis showed that greater testing intention was associated with lower decisional conflict (P < 0.01). Compared with baseline data, multivariate analyses of post-DA outcomes showed that knowledge about LFS and genetic testing increased and decisional conflict related to testing decreased (P < 0.001). Mean cancer worries scores decreased among all participants (P < 0.001), and mean depression scores decreased for males (P < 0.05). Thirty-nine (68%) completed pre-test genetic counseling and 23 (40%) subsequently gave a blood sample for clinical genetic testing. CONCLUSION: This intervention was useful as an initial outreach and educational method for families considering p53 genetic testing, and may improve knowledge about LFS as well as psychological outcomes.     

Factors influencing organizational adoption and implementation of clinical genetic services

PurposeWe sought to identify characteristics of genetic services that facilitate or hinder adoption.MethodsWe conducted semi-structured key informant interviews in five clinical specialties (primary care, medical oncology, neurology, cardiology, pathology/laboratory medicine) within 13 Veterans Administration facilities.ResultsGenetic services (defined as genetic testing and consultation) were not typically characterized by informants (n = 64) as advantageous for their facilities or their patients; compatible with organizational norms of low cost and high clinical impact; or applicable to patient populations or norms of clinical care. Furthermore, genetic services had not been systematically adopted in most facilities because of their complexity: knowledge of and expertise on genetic testing was limited, and organizational barriers to utilization of genetic services were formidable. The few facilities that had some success with implementation of genetic services had knowledgeable clinicians interested in developing services and organizational-level facilitators such as accessible genetic test–ordering processes.ConclusionAdoption and implementation of genetic services will require a multilevel effort that includes education of providers and administrators, opportunities for observing the benefits of genetic medicine, strategies for reducing the complexity of genomic medicine, expanded strategies for accessing genetics expertise and streamlining utilization, and resources dedicated to assessing the value of genetic information for the outcomes that matter to health-care organizations.Genet Med 2014:16(3):238–245.     

Factors influencing the obstetric and perinatal outcome after oocyte donation

BACKGROUND: We evaluated interactions between perinatal outcome after oocyte donation and various maternal factors. METHODS: The study included 134 parturients after oocyte donation. Data were collected from medical files and personal interviews. Stepwise logistic regression analyses were used to evaluate associations between perinatal outcomes and selected maternal variables. RESULTS: Fifty percent of the women were >43 years old, 30.6% were >45 years and 67.9% were nulliparous. The rates of pregnancy induced hypertension (PIH), gestational diabetes and first and second trimester vaginal bleeding (STB) were 27.6, 23.9, 43.3 and 6% respectively, while 72% had Caesarean deliveries. The rates of preterm (PD), low birth weight (LBW), small for gestational age (SGA) deliveries and major malformations were respectively 14.9, 14.9, 7.6 and 2.2%. Using a logistic regression, PD was significantly associated with PIH, STB and maternal smoking. LBW deliveries were significantly associated with PIH, STB, nulliparity and maternal smoking. SGA babies were significantly associated with PIH. These perinatal outcomes were not associated with advanced maternal age or ovarian failure. CONCLUSIONS: There is a high risk of obstetric complications in singleton oocyte donation pregnancies, but the perinatal outcomes are favourable. Patients should be counselled about these risks and monitored for these complications during pregnancy.     

Multicultural education and genetic counseling

The responsibility to provide accessible, useful genetic counseling to individuals from many cultures and ethnicities arises from the increasing ethnocultural diversity of the populations served, coupled with the ethical goal of providing equal access and quality of services for all individuals. The multicultural education, training, and practice of genetic counseling involves three major components: knowledge of relevant ethnocultural groups, ethnocultural self-awareness, and an understanding of institutional and social barriers to services. Despite the diversity of ethnocultural groups served and the critical role of direct experience and training for the genetic counselor, some general guidelines for multicultural genetic counseling can be identified. These include the importance of establishing and maintaining trust, the essential need to respect the counselee's healthcare beliefs and practices, and the necessity of understanding the impact of culture on the process of decision making and on counselee responses to nondirective counseling.     

Psychotherapeutic considerations in genetic counseling

It is essential to consider the psychodynamic aspects of genetic counseling to attain the best outcome for the family. Narcissistic injury (reduced selfesteem), excessive defensiveness, and depressive reactions may impede an effective resolution of feelings and preclude the necessary adaptation to genetic diseases and the new realitities that have developed. Most parents of genetically affected children are capable of dealing with these conflicts. However, some individuals need help during the adaptation process by assisting them to grive for their disappointments and to help them develop new goals for themselves and for the baby that was born. This paper describes psychodynamic concepts that might be explored to facilitate conflict-resolution resulting from the occurrence of genetic disease.     

Use and non-use of genetic counseling after diagnosis of a birth defect

We examined factors and experiences associated with parents' use or non-use of genetic counseling services within 5 years of the diagnosis of a birth defect in their child. Eligible parents were identified using birth defects data for births in 2004 in Victoria, Australia, and invited to complete a written questionnaire and optional telephone interview. Participants were asked about sources of genetic information, experiences and satisfaction with obtaining this information, and impressions of genetic services. Reasons given for not attending genetic counseling services included not knowing the service was available, or not feeling a need to attend. Non-users commonly stated they would not consider termination of pregnancy for the type of birth defect experienced or that they obtained information from other sources, such as pediatricians. This study indicates that parents, whose child has been diagnosed with a birth defect, could benefit from being informed about available genetic counseling services. The results show that some non-users of genetics services may have misconceptions about the purpose of genetic counseling and correcting these may increase utilization. This is important in order to ensure all parents receive sufficient information and support after diagnosis of a birth defect in their child.     

Impact of patient education videos on genetic counseling outcomes after exome sequencing

ObjectiveGrowing use of clinical exome sequencing (CES) has led to an increased burden of genomic education. Self-guided educational tools can minimize the educational burden for genetic counselors (GCs). The effectiveness of these tools must be evaluated.MethodsParents of patients offered CES were randomized to watch educational videos before their visit or to receive routine care. Parents and GCs were surveyed about their experiences following the sessions. The responses of the video (n = 102) and no-video (n = 105) groups were compared.ResultsGCs reported no significant differences between parents in the video and no-video groups on genetics knowledge or CES knowledge. In contrast, parents’ scores on genetics knowledge questions were lower in the video than no-video group (p = 0.007). Most parents reported the videos were informative, and the groups did not differ in satisfaction with GCs or decisions to have CES.ConclusionGCs and parents perceived the videos to be beneficial. However, lower scores on genetics knowledge questions highlight the need for careful development of educational tools.Practice implicationsEducational tools should be developed and assessed for effectiveness with the input of all stakeholders before widespread implementation. Better measures of the effectiveness of these educational tools are needed.